Hemophilia is a rare bleeding disorder caused by insufficient clotting factors in the blood. Here are some key points about hemophilia:

  1. Definition: Hemophilia is characterized by prolonged bleeding after injuries or surgeries due to a deficiency in clotting proteins (clotting factors).
  2. Symptoms:
    • Unexplained, excessive, or easy bleeding
    • Joint pain and swelling
    • Blood in urine or stool
    • Large and deep bruises
    • Frequent nosebleeds
    • Bleeding gums
    • Irritability (especially in children)
  3. Causes:
    • Hemophilia is an inherited genetic condition caused by a defect in the gene responsible for producing clotting factors VIII, IX, or XI.
    • These genes are located on the X chromosome, making hemophilia an X-linked recessive disease.
  4. Complications:
    • If left untreated, hemophilia can lead to:
      • Deep internal bleeding
      • Joint damage
      • Infection resulting from transfusion of contaminated blood products
      • Adverse reactions to clotting factor treatment due to immune responses.
  5. Diagnosis:
    • Tests include:
      • Complete blood count (CBC) to check hemoglobin and platelet count.
      • Activated partial thromboplastin time (APTT) to assess bleeding time.
      • Prothrombin time (PT) to evaluate prothrombin time.
      • Clotting factor tests to measure levels of clotting factors VIII, IX, and XI.
  6. Treatment Options:
    • Injections of deficient clotting factors or plasma.
    • Medications such as aminocaproic acidtranexamic acid, and desmopressin.
    • Physical therapy for joint damage.
    • Blood transfusions with clotting factors or plasma.
  7. Self-Care:
    • Exercise regularly (consult a provider first).
    • Practice dental hygiene.
    • Avoid certain pain medications and blood thinners.

Remember to seek medical attention if you or someone you know exhibits symptoms of hemophilia. 🩸